Incidental Mutation 'IGL01365:CK137956'
ID 75901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol CK137956
Ensembl Gene ENSMUSG00000028813
Gene Name cDNA sequence CK137956
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL01365
Quality Score
Status
Chromosome 4
Chromosomal Location 127821385-127864744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127845135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 203 (S203P)
Ref Sequence ENSEMBL: ENSMUSP00000030614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030614]
AlphaFold B1AYM9
Predicted Effect probably benign
Transcript: ENSMUST00000030614
AA Change: S203P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: S203P

DomainStartEndE-ValueType
Pfam:DUF4688 197 596 3.8e-249 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,469,680 (GRCm39) V867A possibly damaging Het
Adgre5 G T 8: 84,450,518 (GRCm39) probably null Het
Agtr1a A G 13: 30,565,811 (GRCm39) Y292C probably damaging Het
Cnbd1 C T 4: 18,860,576 (GRCm39) G390D probably damaging Het
Cttnbp2nl T C 3: 104,912,346 (GRCm39) T513A probably damaging Het
Dppa2 A G 16: 48,134,276 (GRCm39) K67R possibly damaging Het
Kif3a A G 11: 53,484,350 (GRCm39) K486E possibly damaging Het
Lmnb2 G T 10: 80,740,818 (GRCm39) Q151K probably benign Het
Lmtk3 T A 7: 45,440,331 (GRCm39) L223Q probably damaging Het
Lrrk1 A G 7: 65,937,449 (GRCm39) I901T probably damaging Het
Macf1 T C 4: 123,284,962 (GRCm39) Y3624C probably damaging Het
Mios T A 6: 8,216,089 (GRCm39) Y428* probably null Het
Myb A G 10: 21,028,401 (GRCm39) I154T probably benign Het
Or14a256 T C 7: 86,265,205 (GRCm39) Y216C probably damaging Het
Parp9 C T 16: 35,768,324 (GRCm39) T168I possibly damaging Het
Pramel7 T C 2: 87,321,757 (GRCm39) probably benign Het
Ptar1 T A 19: 23,683,165 (GRCm39) W140R probably damaging Het
Sec14l2 G T 11: 4,048,317 (GRCm39) D400E probably benign Het
Setd3 A T 12: 108,124,165 (GRCm39) Y175N probably damaging Het
Slc5a8 C T 10: 88,727,959 (GRCm39) probably benign Het
Slc8a3 A G 12: 81,362,150 (GRCm39) V223A probably damaging Het
Srsf1 G T 11: 87,940,007 (GRCm39) R173L possibly damaging Het
Svep1 T A 4: 58,100,878 (GRCm39) probably null Het
Tead2 T A 7: 44,866,675 (GRCm39) D11E probably damaging Het
Trappc12 T A 12: 28,797,401 (GRCm39) I44F probably damaging Het
Ttll9 T C 2: 152,842,054 (GRCm39) Y303H possibly damaging Het
Vmn1r28 T A 6: 58,242,176 (GRCm39) N6K possibly damaging Het
Other mutations in CK137956
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:CK137956 APN 4 127,829,643 (GRCm39) missense probably benign
IGL01563:CK137956 APN 4 127,864,428 (GRCm39) missense possibly damaging 0.94
IGL01834:CK137956 APN 4 127,840,442 (GRCm39) missense probably damaging 1.00
R0117:CK137956 UTSW 4 127,840,585 (GRCm39) missense possibly damaging 0.63
R0456:CK137956 UTSW 4 127,839,100 (GRCm39) missense probably damaging 0.99
R0492:CK137956 UTSW 4 127,845,093 (GRCm39) missense probably benign 0.03
R1793:CK137956 UTSW 4 127,845,242 (GRCm39) missense probably benign
R1869:CK137956 UTSW 4 127,864,327 (GRCm39) missense possibly damaging 0.92
R1932:CK137956 UTSW 4 127,840,651 (GRCm39) missense possibly damaging 0.89
R2011:CK137956 UTSW 4 127,844,829 (GRCm39) missense probably benign 0.25
R2030:CK137956 UTSW 4 127,845,180 (GRCm39) missense probably benign 0.23
R2032:CK137956 UTSW 4 127,839,069 (GRCm39) missense probably benign 0.38
R2135:CK137956 UTSW 4 127,845,433 (GRCm39) splice site probably benign
R2994:CK137956 UTSW 4 127,845,300 (GRCm39) missense probably benign 0.03
R3608:CK137956 UTSW 4 127,845,119 (GRCm39) missense probably damaging 1.00
R3895:CK137956 UTSW 4 127,840,441 (GRCm39) missense probably benign 0.01
R4165:CK137956 UTSW 4 127,864,522 (GRCm39) missense possibly damaging 0.83
R5610:CK137956 UTSW 4 127,840,440 (GRCm39) critical splice donor site probably null
R6861:CK137956 UTSW 4 127,864,519 (GRCm39) missense probably damaging 0.98
R7149:CK137956 UTSW 4 127,864,626 (GRCm39) start codon destroyed probably null 0.53
R8132:CK137956 UTSW 4 127,845,075 (GRCm39) nonsense probably null
R8688:CK137956 UTSW 4 127,844,739 (GRCm39) missense possibly damaging 0.88
Posted On 2013-10-07